Varaico: Literature-Extracted Genetic Variants

Gene:TCF3
Variant:p.H269Q
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TCF3

NM_003200.5:p.H269Q

Associated Papers

Autosomal dominant TCF3 deficiency with absent B cells and a unique immunoglobulin profile.

Miyazawa H et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2024

TCF3 haploinsufficiency defined by immune, clinical, gene-dosage, and murine studies.

Boast B et al.

The Journal of Allergy and Clinical Immunology, 2023

A case of progressive multifocal leukoencephalopathy with hypogammaglobulinemia and a TCF3 mutation.

Li Q et al.

Journal of Neurovirology, 2022

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."